A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739946



Internal ID163612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:33110804..33589489hg38UCSC Ensembl
chrX:33128921..33607606hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38478686
hg19478686
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138007
Supporting Variants
Samples
Known GenesDMD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739946
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000416406


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